Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

What Genetic Testing Should I Request?

basilicious

Recommended Posts

basilicious Explorer
basilicious
Posted

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


basilicious Explorer
basilicious
Posted
  • Author

Hi all,

After getting a negative biopsy but mixed blood test results, I want to move forward with the genetic testing. (I'm hoping to find that i don't have the genes and can comfortably proceed with a NCGI label.)

However, I've seen some discussion about different genes being considered by different countries...I'm in the US and am seeing my doctor tomorrow. Does anyone have any advice about the specific test to request, including any specific genes and/or testing processes and/or companies/labs?

Also, I would like to be tested for nutrient deficiencies; which nutrients should be tested? My magnesium and B12 were normal several weeks ago, but I want a more comprehensive check.

Thank you so much!

Well, I was really in a pinch when I posted this but was able to do some additional research that I wanted to share. In fact, it came from celiac.com, so it was my oversight!

The information was under Ten Facts about Celiac Disease Genetic Testing (link is here: https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html)

"The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on "negative celiac genetic testing". To definitively declare you have negative celiac genetic tests requires that the laboratory test for and report the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits. The DQ genetic patterns DQ2 and DQ8 have two subunits but some laboratories only test for the beta subunit. This DQ typing is complicated and difficult to understand even by physicians and scientists. I have written an updated detailed review that appears in the Spring 2008 issue of Scott-Free newsletter published by celiac.com."

So what I took from that is that I should request the genetic testing, which I did today during my appointment, and to help ensure a credible lab result, it's critical to ask that the lab test for both the alpha and beta subunits...to confirm the presence or absence of the entire HLA DQ genetic pattern. If the lab can't do that, then ask your doctor to find a lab that can. If there are other genes that others on here are aware of, please fill me in. I will continue my research and will append this posting if I find something of interest to others.

Also, for those who have been assisting me with my diagnosis process (@ravenwoodglass, @skylark, @rosetapper and several others), I wanted to update you that today I had blood drawn for: total IgA serum, anti-endomysial (EMA) IgA and Vitamin D. I hope to determine whether I have an IgA deficiency. Also, I don't expect my EMA IgA test to be meaningful since I am now gluten-free, but since I only had anti-gliadin IgA tested before, it's more a point of curiosity. Plus, between eating some gluten pre-biopsy, and eating out way too much to successfully avoid all gluten, it is a half-hearted attempt to double-check my blood test.

My doctor was surprisingly receptive to doing the genetic testing and is going to code it so that my insurance understands it is important to evaluate (and will therefore cover it). She's also going to test me for SIBO (at my request). She mentioned that it is key to have a credible clinic/hospital perform the SIBO breath test because the results are subject to rampant diagnosis errors...interesting tidbit.

Archived

This topic is now archived and is closed to further replies.

Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. trents
      - trents commented on Scott Adams's article in Kids and Celiac Disease
      2

      New Study Reveals Age and Racial Gaps in Pediatric Celiac Testing

      The practical takeaway: "For people who care about celiac disease, especially families who have children at higher risk, the findings highlight the importance of self-advocacy." It's the only parameter that the affected individual or their family members have control over. We need to learn to become "politely pushy" in order to get proper testing done when...
    2. Russ H
      - Russ H replied to pothosqueen's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      3

      Positive biopsy

      What you describe is seronegative villous atrophy (negative antibody tests but positive biopsy). It is uncommon in coeliac disease, and there are other causes, but the most common cause is coeliac disease. I would pursue this with your healthcare provider if possible. Based on clinical history, test results and possible genetic testing for susceptibility...
    3. Scott Adams
      - Scott Adams replied to pothosqueen's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      3

      Positive biopsy

      If you are still eating gluten you could get a celiac disease blood panel done, but I agree with @trents and the gold standard for diagnosing celiac disease would be your endoscopy results. Is it possible they did do a celiac disease panel before your biopsy? This would be the normal chain of events. This article might be helpful. It breaks down each...
    4. Scott Adams
      - Scott Adams commented on Scott Adams's article in Latest Research
      3

      New "Glowing Bacteria" Pill Could Transform Gut Disease Detection (+Video)

      This technology is currently years away, as it will need to go through an extensive FDA approval process.
    5. trents
      - trents replied to mamaof7's topic in Parents, Friends and Loved Ones of Celiacs
      7

      Help understand results

      Actually, it would be more correct to say that the genetic potential to develop celiac disease is passed down from parents to children. About 40% of the general population has the genetic potential to develop celiac disease but only about 1% of the general population actually do. But it is also true that the offspring of those who do have active celiac disease...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      133,000
    • Most Online (within 30 mins)
      7,748
    Klutziblonde
    Newest Member
    Klutziblonde
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • Russ H
      Positive biopsy

      By Russ H · Posted

      What you describe is seronegative villous atrophy (negative antibody tests but positive biopsy). It is uncommon in coeliac disease, and there are other causes, but the most common cause is coeliac disease. I would pursue this with your healthcare provider if possible. Based on clinical history, test results and possible genetic testing for susceptibility to coeliac disease it should be possible to give a diagnosis. There is a bit more here: Seronegative coeliac disease
    • Scott Adams
      Positive biopsy

      By Scott Adams · Posted

      If you are still eating gluten you could get a celiac disease blood panel done, but I agree with @trents and the gold standard for diagnosing celiac disease would be your endoscopy results. Is it possible they did do a celiac disease panel before your biopsy? This would be the normal chain of events. This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.    
    • trents
      Help understand results

      By trents · Posted

      Actually, it would be more correct to say that the genetic potential to develop celiac disease is passed down from parents to children. About 40% of the general population has the genetic potential to develop celiac disease but only about 1% of the general population actually do. But it is also true that the offspring of those who do have active celiac disease are at a considerably higher risk of developing active celiac disease than those of parents who have the genes but don't develop the disease. Some recent, larger studies put the risk at near 50% for the first degree relatives of those who have active celiac disease.
    • Jordan Carlson
      Fruits & Veggies

      By Jordan Carlson · Posted

      Hello everyone! Been a while since I posted. The past few moths have been the best by for recovery for myself. I have been the least bloated I have ever been, my constant throat clearing is almost gone, I have stopped almost all medication I was prevously taking (was taking vyvanse for adhd, pristiq for anxiety,fomotadine/blexten for histamine blockers and singulair). Only thing I take now is Tecta. I also no longer get any rashes after eating. Things are going very well. Most success came actually once I upped my B12 daily dose to 5,000 mcg. I do have one thing I am un able to figure out and want to see if anyone else has this issue or has experience working around it. Ever since I was born I have always had a issue getting fruits and veggies down. No matter how hard I tried, it would always result in gagging or throwing up. Always just thought I was a picky eater. Now that my stomach and system has healed enough that I can feel when something is off almost istantly, I notice that after eating most fruits (sometimes I am ok with bananas) and veggies, my stomach instantly starts burning and my heart starts to pound and I get really anxious as if my body doesnt know what to do with what just enetered it. So I am thinking now that this is what probably was going on when I was born and my body started rejecting it before which caused this weird sensory issue with it causing the gagging. Hoping someone has some exprience with this as well because I would love to be able to enjoy a nice fruit smoothie once in a while haha. Thanks everyone!
    • wellthatsfun
      heaps of hope!

      By wellthatsfun · Posted

      i know i've been rather cynical and sad about being fully diagnosed in june 2025, but my boyfriend has been consistently showing me the wonderful world that is gluten free cooking and baking. in the past couple of days he's made me a gluten free rice paper-wrapped spanakopita "pastry", plus a wonderful mac and cheese bechamel-ish sauce with gluten free pasta (san remo brand if you're in australia/if you can get your hands on it wherever you are).  those meals are notably gluten free, but mainly he's been making me easy gluten free meals - chili mince with white rice and sour cream, chicken soup with homemade stock from the chicken remains, and roast chickens with rice flour gravy and roast veggies. i'm a bit too thankful and grateful lol. how lucky could i possibly be? and, of course, for those who don't have someone to cook for them, it's quite easy to learn to cook for yourself. i've been making a lot of meals for us too. honestly, cooking is pretty darn fun! knowing basic knife skills and sanitary practices are all you really need. experimenting with spices will help you get on track to creating some really flavourful and yummy dishes. coeliac is a pain, but you can use it to your advantage. healthier eating and having fun in the kitchen are major upsides. much luck to all of you! let's be healthy!
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.